Sex differences in clinical phenotypes of behavioral variant frontotemporal dementia
Liu, X. (University of Toronto)
de Boer, S.C.M. (The University of Sydney)
Cortez, K. (Krembil Research Institute. University Health Network)
Poos, J.M. (Erasmus MC University Medical Center)
Illán-Gala, Ignacio (Institut de Recerca Sant Pau)
Heuer, H. (University of California)
Forsberg, L.K. (Mayo Clinic Florida (Jacksonville, Estats Units d'Amèrica))
Casaletto, K. (University of California)
Memel, M. (University of California)
Appleby, B.S. (Case Western Reserve University)
Barmada, S. (University of Michigan)
Bozoki, A. (University of North Carolina)
Clark, D. (Indiana University)
Cobigo, Y. (University of California)
Darby, R. (Vanderbilt University)
Dickerson, B.C. (Harvard Medical School)
Domoto-Reilly, K. (University of Washington)
Galasko, D.R. (University of California. San Diego)
Geschwind, D.H. (University of California)
Ghoshal, N. (Washington University School of Medicine in St Louis)
Graff-Radford, N.R. (Mayo Clinic)
Grant, I.M. (Northwestern Feinberg School of Medicine (Chicago, Estats Units d'Amèrica))
Hsiung, G.Y.R. (University of British Columbia)
Honig, L.S. (Columbia University Irving Medical Center)
Huey, E.D. (Alpert Medical School of Brown University)
Irwin, D. (University of Pennsylvania)
Kantarci, K. (Mayo Clinic Florida (Jacksonville, Estats Units d'Amèrica))
Léger, G.C. (University of California. San Diego)
Litvan, I. (University of California. San Diego)
Mackenzie, I.R. (University of British Columbia)
Masdeu, J.C. (Nantz National Alzheimer Center. Houston Methodist)
Mendez, M.F. (University of California)
Onyike, C.U. (Johns Hopkins University School of Medicine)
Pascual, B. (Nantz National Alzheimer Center. Houston Methodist)
Pressman, P. (University of Colorado Denver)
Bayram, E. (University of Colorado Denver)
Ramos, E.M. (University of California)
Roberson, E.D. (University of Alabama at Birmingham)
Rogalski, E. (University of Chicago)
Bouzigues, A. (UCL Institute of Neurology. Queen Square)
Russell, L.L. (UCL Institute of Neurology. Queen Square)
Foster, P.H. (UCL Institute of Neurology. Queen Square)
Ferry-Bolder, E. (UCL Institute of Neurology. Queen Square)
Masellis, M. (Sunnybrook Health Sciences Centre. Sunnybrook Research Institute)
van Swieten, J. (Erasmus MC University Medical Center)
Jiskoot, L. (Erasmus MC University Medical Center)
Seelaar, H. (Erasmus MC University Medical Center)
Sanchez-Valle, Raquel (Hospital Clínic i Provincial de Barcelona)
Laforce, Robert Jr (Université Laval)
Graff, Caroline (Karolinska University Hospital)
Galimberti, Daniela (University of Milan)
Vandenberghe, Rik (UZ Leuven)
de Mendonça, Alexandre (University of Lisbon)
Tiraboschi, P. (Fondazione IRCCS Istituto Neurologico Carlo Besta (Milà, Itàlia))
Santana, I. (University of Coimbra)
Gerhard, Alexander (Klinikum Hochsauerland)
Levin, J. (Munich Cluster of Systems Neurology)
Sorbi, Sandro (IRCCS Fondazione Don Carlo Gnocchi)
Otto, Markus (University of Ulm)
Pasquier, Florence (CHU. CNR-MAJ. Labex Distalz. LiCEND Lille)
Ducharme, S. (McGill University)
Butler, C.R. (The Hammersmith Hospital)
Ber, I.L. (AP-HP - Pitié-Salpêtrière Hospital)
Finger, E. (University of Western Ontario)
Rowe, J.B. (University of Cambridge)
Synofzik, M. (Centre for Neurodegenerative Diseases (DZNE))
Moreno, F. (Instituto de Investigación Sanitaria Biogipuzkoa)
Borroni, Barbara (University of Brescia)
Boeve, Bradley (Mayo Clinic Florida (Jacksonville, Estats Units d'Amèrica))
Boxer, A.L. (University of California. San Francisco)
Rosen, H.J. (University of California. San Francisco)
Pijnenburg, Y.A.L. (Vrije Universiteit Amsterdam)
Rohrer, J.D. (UCL Institute of Neurology. Queen Square)
Tartaglia, M.C. (University of Toronto)
Universitat Autònoma de Barcelona. Departament de Medicina

Data:	2025
Resum:	INTRODUCTION: Higher male prevalence in sporadic behavioral variant frontotemporal dementia (bvFTD) has been reported. We hypothesized differences in phenotypes between genetic and sporadic bvFTD females resulting in underdiagnosis of sporadic bvFTD females. METHODS: We included genetic and sporadic bvFTD patients from two multicenter cohorts. We compared behavioral and cognitive symptoms, and gray matter volumes, between genetic and sporadic cases in each sex. RESULTS: Females with sporadic bvFTD showed worse compulsive behavior (p = 0. 026) and language impairments (p = 0. 024) compared to females with genetic bvFTD (n = 152). Genetic bvFTD females had smaller gray matter volumes than sporadic bvFTD females, particularly in the parietal lobe. DISCUSSION: Females with sporadic bvFTD exhibit a distinct clinical phenotype compared to females with genetic bvFTD. This difference may explain the discrepancy in prevalence between genetic and sporadic cases, as some females without genetic mutations may be misdiagnosed due to atypical bvFTD symptom presentation. Highlights: Sex ratio is equal in genetic behavioral variant of frontotemporal dementia (bvFTD), whereas more males are present in sporadic bvFTD. Distinct neuropsychiatric phenotypes exist between sporadic and genetic bvFTD in females. Phenotype might explain the sex ratio difference between sporadic and genetic cases.
Ajuts:	Instituto de Salud Carlos III PI19/01637
Drets:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Llengua:	Anglès
Document:	Article ; recerca ; Versió publicada
Matèria:	Behavioral variant frontotemporal dementia ; Clinical diagnosis ; Diversity ; Sex difference
Publicat a:	Alzheimer's & dementia, Vol. 21 Núm. 4 (april 2025) , p. e14608, ISSN 1552-5279

DOI: 10.1002/alz.14608
PMID: 40277074

17 p, 2.4 MB

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